Linked Data
ClinVar Variation Id:
218187
ClinVar RCV Id:
RCV000202409
dbSNP Id:
rs2301600
PubMed:
PMID:26179919
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35295965C>G , CM000681.2:g.35295965C>G | GRCh38 |
| NC_000019.9:g.35786868C>G , CM000681.1:g.35786868C>G | GRCh37 |
| NC_000019.8:g.40478708C>G | NCBI36 |
| NG_034078.1:g.8880C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392213.8:c.399C>G MANE Select | ENSP00000376048.2:p.Ser133Arg | |
| ENST00000361922.8:c.399C>G | ENSP00000355234.4:p.Ser133Arg | |
| ENST00000392213.7:c.399C>G | ENSP00000376048.2:p.Ser133Arg | |
| ENST00000537831.2:c.324C>G | ENSP00000440695.1:p.Ser108Arg | |
| ENST00000595791.5:c.399C>G | ENSP00000473125.1:p.Ser133Arg | |
| ENST00000597035.5:c.176+223C>G | ENSP00000473245.1:n.176+223C>G | |
| ENST00000600291.5:c.324C>G | ENSP00000470772.1:p.Ser108Arg | |
| NM_001199216.1:c.324C>G | NP_001186145.1:p.Ser108Arg | |
| NM_002361.3:c.399C>G | NP_002352.1:p.Ser133Arg | |
| NM_080600.2:c.399C>G | NP_542167.1:p.Ser133Arg | |
| NM_002361.4:c.399C>G MANE Select | NP_002352.1:p.Ser133Arg | |
| NM_001199216.2:c.324C>G | NP_001186145.1:p.Ser108Arg | |
| NM_080600.3:c.399C>G | NP_542167.1:p.Ser133Arg |